Lu C, Xie M, Wendl MC et al. Patterns and functional implications of rare germline variants across 12 cancer types. Nat Commun 2015;6:10086.
Huang KL, Mashl RJ, Wu Y et al. Pathogenic germline variants in 10,389 adult cancers. Cell 2018;173:355–370.e14.
Lu HM, Li S, Black MH et al. Association of breast and ovarian cancers with predisposition genes identified by large-scale sequencing. JAMA Oncol 2019;5:51–57.
Panou V, Gadiraju M, Wolin A et al. Frequency of germline mutations in cancer susceptibility genes in malignant mesothelioma. J Clin Oncol 2018;36:2863–2871.
Rahman N. Realizing the promise of cancer predisposition genes. Nature 2014;505:302–308.
Leinonen R, Sugawara H, Shumway M et al. The sequence read archive. Nucleic Acids Res 2011;39:D19–D21.
Thompson CA, Gomez SL, Hastings KG et al. The burden of cancer in Asian Americans: a report of national mortality trends by Asian ethnicity. Cancer Epidemiol Biomarkers Prev 2016;25:1371–1382.
Langmead B, Salzberg SL. Fast gapped-read alignment with Bowtie 2. Nat Methods 2012;9:357–359.
Koboldt DC, Zhang Q, Larson DE et al. VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing. Genome Res 2012;22:568–576.
Dobin A, Davis CA, Schlesinger F et al. STAR: ultrafast universal RNA-seq aligner. Bioinformatics 2013;29:15–21.
Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 2010;38:e164.
Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009;25:1754–1760.
Wheeler DL, Barrett T, Benson DA et al. Database resources of the national center for biotechnology information. Nucleic Acids Res 2007;35:D5–D12.
Landrum MJ, Lee JM, Riley GR et al. ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res 2014;42:D980–D985.
Lin DC, Hao JJ, Nagata Y et al. Genomic and molecular characterization of esophageal squamous cell carcinoma. Nat Genet 2014;46:467–473.
Damineni S, Rao VR, Kumar S et al. Germline mutations of TP53 gene in breast cancer. Tumour Biol 2014;35:9219–9227.
Deng J, Chen H, Zhou D et al. Comparative genomic analysis of esophageal squamous cell carcinoma between Asian and Caucasian patient populations. Nat Commun 2017;8:1533.
Yap YS, Lu YS, Tamura K et al. Insights into breast cancer in the east vs the west: a review. JAMA Oncol 2019;5:1489–1496.
Karami F, Mehdipour P. A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer. BioMed Res Int 2013;2013:928562.